ClinVar Miner

List of variants in gene PORCN reported as likely pathogenic for Focal dermal hypoplasia

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Total variants: 3
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NM_203475.3(PORCN):c.1356del (p.Cys453fs) rs1602085557
NM_203475.3(PORCN):c.329+1G>A rs1602070594
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg) rs1057519006

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